Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels
Kerkhof, Jennifer, Schenkel, Laila C., Reilly, Jack, McRobbie, Sheri, Aref-Eshghi, Erfan, Stuart, Alan, Rupar, C. Anthony, Adams, Paul, Hegele, Robert A., Lin, Hanxin, Rodenhiser, David, Knoll, Joan, Ainsworth, Peter J., Sadikovic, Bekim
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
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Journal Article
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Aref-Eshghi, Erfan, Bend, Eric G., Colaiacovo, Samantha, Caudle, Michelle, Chakrabarti, Rana, Napier, Melanie, Brick, Lauren, Brady, Lauren, Carere, Deanna Alexis, Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Saleh, Maha, Beaudet, Arthur L., Li, Chumei, Kozenko, Maryia, Karp, Natalya, Prasad, Chitra, Siu, Victoria Mok, Tarnopolsky, Mark A., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Krantz, Ian D., Deardorff, Matthew A., Schwartz, Charles E., Sadikovic, Bekim
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Journal Article
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
Aref-Eshghi, Erfan, Bend, Eric G, Hood, Rebecca L, Schenkel, Laila C, Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C S, Cheung, Sau Wai, Campeau, Philippe M, Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A, Callen, David J, Innes, A Micheil, White, Susan M, Meschino, Wendy S, Shuen, Andrew Y, Paré, Guillaume, Bulman, Dennis E, Ainsworth, Peter J, Lin, Hanxin, Rodenhiser, David I, Hennekam, Raoul C, Boycott, Kym M, Schwartz, Charles E, Sadikovic, Bekim
Published in Nature communications (20.11.2018)
Published in Nature communications (20.11.2018)
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Journal Article
The defining DNA methylation signature of Floating-Harbor Syndrome
Hood, Rebecca L, Schenkel, Laila C, Nikkel, Sarah M, Ainsworth, Peter J, Pare, Guillaume, Boycott, Kym M, Bulman, Dennis E, Sadikovic, Bekim
Published in Scientific reports (09.12.2016)
Published in Scientific reports (09.12.2016)
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Journal Article
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
Aref-Eshghi, Erfan, Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Rodenhiser, David, Schwartz, Charles, Sadikovic, Bekim
Published in Epigenetics (02.11.2017)
Published in Epigenetics (02.11.2017)
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Journal Article
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature
Aref-Eshghi, Erfan, McGee, Jacob D, Pedro, Victor P, Kerkhof, Jennifer, Stuart, Alan, Ainsworth, Peter J, Lin, Hanxin, Volodarsky, Michael, McLachlin, Catherine Meg, Sadikovic, Bekim
Published in Journal of human genetics (01.10.2020)
Published in Journal of human genetics (01.10.2020)
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Journal Article
Chemotherapy-Induced Amenorrhea in Patients With Breast Cancer With a BRCA1 or BRCA2 Mutation
VALENTINI, Adriana, FINCH, Amy, SINGER, Christian, PING SUN, NAROD, Steven A, LUBINSKI, Jan, BYRSKI, Tomasz, GHADIRIAN, Parviz, KIM-SING, Charmaine, LYNCH, Henry T, AINSWORTH, Peter J, NEUHAUSEN, Susan L, GREENBLATT, Ellen
Published in Journal of clinical oncology (01.11.2013)
Published in Journal of clinical oncology (01.11.2013)
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Journal Article
Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array
Schenkel, Laila C, Schwartz, Charles, Skinner, Cindy, Rodenhiser, David I, Ainsworth, Peter J, Pare, Guillaume, Sadikovic, Bekim
Published in The Journal of molecular diagnostics : JMD (01.11.2016)
Published in The Journal of molecular diagnostics : JMD (01.11.2016)
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Journal Article
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders
Aref-Eshghi, Erfan, Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Siu, Victoria, Rodenhiser, David, Schwartz, Charles, Sadikovic, Bekim
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
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Journal Article
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers
Metcalfe, Kelly A., Birenbaum‐Carmeli, Daphna, Lubinski, Jan, Gronwald, Jacek, Lynch, Henry, Moller, Pal, Ghadirian, Parviz, Foulkes, William D., Klijn, Jan, Friedman, Eitan, Kim‐Sing, Charmaine, Ainsworth, Peter, Rosen, Barry, Domchek, Susan, Wagner, Teresa, Tung, Nadine, Manoukian, Siranoush, Couch, Fergus, Sun, Ping, Narod, Steven A.
Published in International journal of cancer (01.05.2008)
Published in International journal of cancer (01.05.2008)
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Journal Article
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
Schenkel, Laila C, Kernohan, Kristin D, McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J, Rodenhiser, David I, Pare, Guillaume, Bérubé, Nathalie G, Skinner, Cindy, Boycott, Kym M, Schwartz, Charles, Sadikovic, Bekim
Published in Epigenetics & chromatin (10.03.2017)
Published in Epigenetics & chromatin (10.03.2017)
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Journal Article
Breast Cancer Risk Following Bilateral Oophorectomy in BRCA1 and BRCA2 Mutation Carriers: An International Case-Control Study
EISEN, Andrea, LUBINSKI, Jan, FOULKES, William D, GERSHONI-BARUCH, Ruth, FRIEDMAN, Eitan, RENNERT, Gadi, WAGNER, Teresa, ISAACS, Claudine, KIM-SING, Charmaine, AINSWORTH, Peter, PING SUN, NAROD, Steven A, KLIJN, Jan, MOLLER, Pal, LYNCH, Henry T, OFFIT, Kenneth, WEBER, Barbara, REBBECK, Tim, NEUHAUSEN, Susan L, GHADMAN, Parviz
Published in Journal of clinical oncology (20.10.2005)
Published in Journal of clinical oncology (20.10.2005)
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Journal Article
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
Schenkel, Laila C, Aref-Eshghi, Erfan, Skinner, Cindy, Ainsworth, Peter, Lin, Hanxin, Paré, Guillaume, Rodenhiser, David I, Schwartz, Charles, Sadikovic, Bekim
Published in Clinical epigenetics (14.02.2018)
Published in Clinical epigenetics (14.02.2018)
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Journal Article
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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Journal Article
Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues
Aref-Eshghi, Erfan, Schenkel, Laila C, Ainsworth, Peter, Lin, Hanxin, Rodenhiser, David I, Cutz, Jean-Claude, Sadikovic, Bekim
Published in Frontiers in oncology (23.04.2018)
Published in Frontiers in oncology (23.04.2018)
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Journal Article
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis
Schenkel, Laila C, Kerkhof, Jennifer, Stuart, Alan, Reilly, Jack, Eng, Barry, Woodside, Crystal, Levstik, Alexander, Howlett, Christopher J, Rupar, Anthony C, Knoll, Joan H.M, Ainsworth, Peter, Waye, John S, Sadikovic, Bekim
Published in The Journal of molecular diagnostics : JMD (01.09.2016)
Published in The Journal of molecular diagnostics : JMD (01.09.2016)
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Journal Article
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Kernohan, Kristin D, Cigana Schenkel, Laila, Huang, Lijia, Smith, Amanda, Pare, Guillaume, Ainsworth, Peter, Boycott, Kym M, Warman-Chardon, Jodi, Sadikovic, Bekim
Published in Clinical epigenetics (05.09.2016)
Published in Clinical epigenetics (05.09.2016)
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Journal Article